The MMACHC gene homepage
| General information |
| Gene symbol |
MMACHC |
| Gene name |
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
| Chromosome |
1 |
| Chromosomal band |
p34.1 |
| Imprinted |
Unknown |
| Genomic reference |
NG_013378.1 |
| Transcript reference |
NM_015506.2 |
| Associated with diseases |
ID, aciduria, methylmalonic, and homocystinuria, cblC type |
| Citation reference(s) |
- |
| Curators (1) |
Johan T. den Dunnen |
| Total number of public variants reported |
156 |
| Unique public DNA variants reported |
15 |
| Individuals with public variants |
35 |
| Hidden variants |
3 |
| Date created |
November 30, -0001 |
| Date last updated |
September 28, 2016 |
| Version |
MMACHC:160928 |
Active transcripts
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